Variant report

Variant	esv3314058
Chromosome Location	chr16:69854194-69858940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69855648..69859422-chr16:69860178..69863349,3	K562	blood:
2	chr16:69848424..69850083-chr16:69853504..69855055,2	K562	blood:
3	chr16:69845710..69847786-chr16:69856169..69858041,2	MCF-7	breast:

Extended variants
information (count: 201 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183033269	chr16:69854226-69854227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543953608	chr16:69854231-69854232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536671723	chr16:69854254-69854255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186253886	chr16:69854298-69854299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376989376	chr16:69854330-69854331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370526456	chr16:69854334-69854335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112804217	chr16:69854339-69854340	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374940578	chr16:69854342-69854343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548737716	chr16:69854347-69854348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567175672	chr16:69854366-69854367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375848914	chr16:69854374-69854375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527950239	chr16:69854382-69854383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200361210	chr16:69854405-69854406	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552644025	chr16:69854424-69854425	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570856877	chr16:69854436-69854437	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs376291756	chr16:69854450-69854451	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34777921	chr16:69854458-69854459	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148290400	chr16:69854489-69854490	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35345467	chr16:69854543-69854544	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556397301	chr16:69854591-69854592	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568512801	chr16:69854627-69854628	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140520717	chr16:69854656-69854657	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190085152	chr16:69854668-69854669	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572840623	chr16:69854687-69854688	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540131555	chr16:69854692-69854693	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568569436	chr16:69854726-69854727	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368547603	chr16:69854728-69854729	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374819568	chr16:69854729-69854730	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs35065241	chr16:69854759-69854760	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576416702	chr16:69854763-69854764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs544162759	chr16:69854764-69854765	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562469698	chr16:69854784-69854785	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145666924	chr16:69854804-69854805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533692275	chr16:69854842-69854843	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183022932	chr16:69854850-69854851	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560659814	chr16:69854852-69854853	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113289098	chr16:69854864-69854865	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12446197	chr16:69854869-69854870	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552883111	chr16:69854896-69854897	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373769408	chr16:69854911-69854912	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531628228	chr16:69854927-69854928	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550101299	chr16:69854941-69854942	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142897655	chr16:69854976-69854977	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535931757	chr16:69854984-69854985	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548026174	chr16:69855005-69855006	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371827581	chr16:69855043-69855044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566306959	chr16:69855056-69855057	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187768417	chr16:69855095-69855096	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376811434	chr16:69855105-69855106	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200553752	chr16:69855169-69855170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21611746	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
2	chr16:69817800-69854600	Weak transcription	HMEC	breast
3	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
4	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:69830200-69856600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:69830600-69857600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:69830600-69864200	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
9	chr16:69831000-69854800	Weak transcription	Aorta	Aorta
10	chr16:69831000-69856400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:69832400-69858400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr16:69833200-69854800	Weak transcription	NH-A	brain
13	chr16:69833400-69854600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:69833400-69854600	Weak transcription	NHLF	lung
15	chr16:69833800-69854400	Weak transcription	Osteobl	bone
16	chr16:69833800-69854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:69833800-69854800	Weak transcription	HSMM	muscle
18	chr16:69833800-69854800	Weak transcription	HSMMtube	muscle
19	chr16:69833800-69857600	Weak transcription	Small Intestine	intestine
20	chr16:69833800-69864400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:69833800-69874600	Weak transcription	Dnd41	blood
22	chr16:69833800-69875600	Weak transcription	NHEK	skin
23	chr16:69834000-69854400	Weak transcription	Fetal Kidney	kidney
24	chr16:69834000-69855000	Weak transcription	Brain Germinal Matrix	brain
25	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:69834200-69857800	Weak transcription	Left Ventricle	heart
27	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:69834400-69854800	Weak transcription	Brain Angular Gyrus	brain
29	chr16:69834400-69854800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr16:69836400-69867400	Weak transcription	Colonic Mucosa	Colon
31	chr16:69836800-69864200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:69836800-69864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr16:69837800-69854400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:69837800-69864600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:69838600-69873000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:69838800-69864400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:69838800-69874400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:69839200-69854600	Weak transcription	Fetal Heart	heart
40	chr16:69839400-69854600	Weak transcription	NHDF-Ad	bronchial
41	chr16:69839400-69854800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr16:69842000-69857200	Weak transcription	GM12878-XiMat	blood
43	chr16:69843400-69854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:69844000-69854600	Weak transcription	Brain Substantia Nigra	brain
45	chr16:69844200-69854600	Weak transcription	Brain Anterior Caudate	brain
46	chr16:69844200-69854600	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:69844200-69854600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:69844200-69855000	Weak transcription	Right Atrium	heart
49	chr16:69844200-69855400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:69844200-69863000	Weak transcription	Esophagus	oesophagus

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